Fine-scale population structure and demographic history of British Pakistanis
Arciero, Elena, Dogra, Sufyan A., Malawsky, Daniel S., Mezzavilla, Massimo, Tsismentzoglou, Theofanis, Huang, Qin Qin, Hunt, Karen A., Mason, Dan, Sharif, Saghira Malik, van Heel, David A., Sheridan, Eamonn, Wright, John, Small, Neil, Carmi, Shai, Iles, Mark M., Martin, Hilary C.
Published in Nature communications (10.12.2021)
Published in Nature communications (10.12.2021)
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Quantification of Homozygosity in Consanguineous Individuals with Autosomal Recessive Disease
Woods, C. Geoffrey, Cox, James, Springell, Kelly, Hampshire, Daniel J., Mohamed, Moin D., McKibbin, Martin, Stern, Rowena, Raymond, F. Lucy, Sandford, Richard, Malik Sharif, Saghira, Karbani, Gulshan, Ahmed, Mustaq, Bond, Jacquelyn, Clayton, David, Inglehearn, Chris F.
Published in American journal of human genetics (01.05.2006)
Published in American journal of human genetics (01.05.2006)
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Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus
JEONG HO LEE, SILHAVY, Jennifer L, GABRIEL, Stacey B, RUSS, Carsten, LOGAN, Clare V, MALIK SHARIF, Saghira, BENNETT, Christopher P, ABE, Masumi, HILDEBRANDT, Friedhelm, DIPLAS, Bill H, ATTIE-BITACH, Tania, KATSANIS, Nicholas, JI EUN LEE, RAJAB, Anna, KOUL, Roshan, SZTRIHA, Laszlo, WATERS, Elizabeth R, FERRO-NOVICK, Susan, GEOFFREY WOODS, C, JOHNSON, Colin A, MARIA VALENCE, Enza, ZAKI, Maha S, GLEESON, Joseph G, AL-GAZALI, Lihadh, THOMAS, Sophie, DAVIS, Erica E, BIELAS, Stephanie L, HILL, Kiley J, LANNICELLI, Miriam, BRANCATI, Francesco
Published in Science (American Association for the Advancement of Science) (24.02.2012)
Published in Science (American Association for the Advancement of Science) (24.02.2012)
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The transmembrane protein meckelin ( MKS3 ) is mutated in Meckel-Gruber syndrome and the wpk rat
Bennett, Christopher P, Attie-Bitach, Tania, Lilliquist, Stacie, Pasha, Shanaz, Harris, Peter C, Morgan, Neil V, Malik Sharif, Saghira, Maher, Eamonn R, Johnson, Colin A, Tee, Louise J, Maina, Esther N, Bucourt, Martine, Miller, Caroline A, Ward, Christopher J, Goranson, Erin, Trembath, Richard C, McKee, Brandy M, McKeown, Carole, Consugar, Mark, Torres, Vicente E, Cox, Phillip, Smith, Ursula M, Gattone, Vincent H, Whelan, Shelly, Aligianis, Irene A, Batman, Philip A, Woods, C Geoffrey, AlGazali, Lihadh, Punyashthiti, Rachaneekorn, Gissen, Paul, Kelly, Deirdre A
Published in Nature genetics (01.02.2006)
Published in Nature genetics (01.02.2006)
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Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain
Zhang, Stella, Malik Sharif, Saghira, Chen, Ya-Chun, Valente, Enza-Maria, Ahmed, Mushtaq, Sheridan, Eamonn, Bennett, Christopher, Woods, Geoffrey
Published in Journal of medical genetics (01.08.2016)
Published in Journal of medical genetics (01.08.2016)
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Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy
Diggle, Christine P., Sukoff Rizzo, Stacey J., Popiolek, Michael, Hinttala, Reetta, Schülke, Jan-Philip, Kurian, Manju A., Carr, Ian M., Markham, Alexander F., Bonthron, David T., Watson, Christopher, Sharif, Saghira Malik, Reinhart, Veronica, James, Larry C., Vanase-Frawley, Michelle A., Charych, Erik, Allen, Melanie, Harms, John, Schmidt, Christopher J., Ng, Joanne, Pysden, Karen, Strick, Christine, Vieira, Päivi, Mankinen, Katariina, Kokkonen, Hannaleena, Kallioinen, Matti, Sormunen, Raija, Rinne, Juha O., Johansson, Jarkko, Alakurtti, Kati, Huilaja, Laura, Hurskainen, Tiina, Tasanen, Kaisa, Anttila, Eija, Marques, Tiago Reis, Howes, Oliver, Politis, Marius, Fahiminiya, Somayyeh, Nguyen, Khanh Q., Majewski, Jacek, Uusimaa, Johanna, Sheridan, Eamonn, Brandon, Nicholas J.
Published in American journal of human genetics (07.04.2016)
Published in American journal of human genetics (07.04.2016)
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Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies
Szymanska, Katarzyna, Berry, Ian, Logan, Clare V, Cousins, Simon Rr, Lindsay, Helen, Jafri, Hussain, Raashid, Yasmin, Malik-Sharif, Saghira, Castle, Bruce, Ahmed, Mushtag, Bennett, Chris, Carlton, Ruth, Johnson, Colin A
Published in Cilia (London) (01.10.2012)
Published in Cilia (London) (01.10.2012)
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A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24
MORGAN, Neil V, GISSEN, Paul, TREMBATH, Richard C, MAHER, Eamonn R, JOHNSON, Colin A, SAGHIRA MALIK SHARIF, BAUMBER, Laura, SUTHERLAND, Joan, KELLY, Deirdre A, AMINU, Kingi, BENNETT, Christopher P, WOODS, C. Geoffrey, MUELLER, Robert F
Published in Human genetics (01.10.2002)
Published in Human genetics (01.10.2002)
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Influence of autozygosity on common disease risk across the phenotypic spectrum
Malawsky, Daniel S., van Walree, Eva, Jacobs, Benjamin M., Heng, Teng Hiang, Huang, Qin Qin, Sabir, Ataf H., Rahman, Saadia, Sharif, Saghira Malik, Khan, Ahsan, Mirkov, Maša Umićević, Kuwahara, Hiroyuki, Gao, Xin, Alkuraya, Fowzan S., Posthuma, Danielle, Newman, William G., Griffiths, Christopher J., Mathur, Rohini, van Heel, David A., Finer, Sarah, O’Connell, Jared, Martin, Hilary C.
Published in Cell (12.10.2023)
Published in Cell (12.10.2023)
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Randomised controlled trial of simvastatin treatment for autism in young children with neurofibromatosis type 1 (SANTA)
Stivaros, Stavros, Garg, Shruti, Tziraki, Maria, Cai, Ying, Thomas, Owen, Mellor, Joseph, Morris, Andrew A, Jim, Carly, Szumanska-Ryt, Karolina, Parkes, Laura M, Haroon, Hamied A, Montaldi, Daniela, Webb, Nicholas, Keane, John, Castellanos, Francisco X, Silva, Alcino J, Huson, Sue, Williams, Stephen, Gareth Evans, D, Emsley, Richard, Green, Jonathan
Published in Molecular autism (22.02.2018)
Published in Molecular autism (22.02.2018)
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Early differences in auditory processing relate to Autism Spectrum Disorder traits in infants with Neurofibromatosis Type I
Begum-Ali, Jannath, Kolesnik-Taylor, Anna, Quiroz, Isabel, Mason, Luke, Garg, Shruti, Green, Jonathan, Johnson, Mark H, Jones, Emily J H
Published in Journal of neurodevelopmental disorders (28.05.2021)
Published in Journal of neurodevelopmental disorders (28.05.2021)
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Sex bias in autism spectrum disorder in neurofibromatosis type 1
Garg, Shruti, Heuvelman, Hein, Huson, Susan, Tobin, Hannah, Green, Jonathan
Published in Journal of neurodevelopmental disorders (26.07.2016)
Published in Journal of neurodevelopmental disorders (26.07.2016)
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Early development of infants with neurofibromatosis type 1: a case series
Kolesnik, Anna May, Jones, Emily Jane Harrison, Garg, Shruti, Green, Jonathan, Charman, Tony, Johnson, Mark Henry
Published in Molecular autism (23.11.2017)
Published in Molecular autism (23.11.2017)
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A family with Papillon-Lefèvre syndrome reveals a requirement for cathepsin C in granzyme B activation and NK cell cytolytic activity
Meade, Josephine L., de Wynter, Erika A., Brett, Peter, Sharif, Saghira Malik, Woods, C. Geoffrey, Markham, Alexander F., Cook, Graham P.
Published in Blood (01.05.2006)
Published in Blood (01.05.2006)
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Evolutionary Assembled cis-Regulatory Module at a Human Ciliopathy Locus
Lee, Jeong Ho, Silhavy, Jennifer L., Lee, Ji Eun, Al-Gazali, Lihadh, Thomas, Sophie, Davis, Erica E., Bielas, Stephanie L., Hill, Kiley J., Iannicelli, Miriam, Brancati, Francesco, Gabriel, Stacey B., Russ, Carsten, Logan, Clare V., Sharif, Saghira Malik, Bennett, Christopher P., Abe, Masumi, Hildebrandt, Friedhelm, Diplas, Bill H., Attié-Bitach, Tania, Katsanis, Nicholas, Rajab, Anna, Koul, Roshan, Sztriha, Laszlo, Waters, Elizabeth R., Ferro-Novick, Susan, Woods, C. Geoffrey, Johnson, Colin A., Valente, Enza Maria, Zaki, Maha S., Gleeson, Joseph G.
Published in Science (American Association for the Advancement of Science) (24.02.2012)
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Published in Science (American Association for the Advancement of Science) (24.02.2012)
Journal Article
A family with Papillon-Lefèvre syndrome reveals a requirement for cathepsin C in granzyme B activation and NK cell cytolytic activity
Meade, Josephine L., de Wynter, Erika A., Brett, Peter, Sharif, Saghira Malik, Woods, C. Geoffrey, Markham, Alexander F., Cook, Graham P.
Published in Blood (01.05.2006)
Published in Blood (01.05.2006)
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